ClinVar Miner

Submissions for variant NM_001308.3(CPN1):c.533G>A (p.Gly178Asp) (rs61751507)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455837 SCV000538730 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all):461/13006=3.54%
Mendelics RCV000007002 SCV001138159 benign Anaphylotoxin inactivator deficiency 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000007002 SCV000027198 pathogenic Anaphylotoxin inactivator deficiency 2003-01-01 no assertion criteria provided literature only

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